Biopterin
Clinical Background:
Tetrahydrobiopterin (BH4) is a cofactor for phenylalanine hydroxylase. Dihydropteridine reductase (DHPR) is required for BH4 synthesis.
Deficiences of either result in hyperphenylalaninaemia (“atyp...
Tetrahydrobiopterin (BH4) is a cofactor for phenylalanine hydroxylase. Dihydropteridine reductase (DHPR) is required for BH4 synthesis.
Deficiences of either result in hyperphenylalaninaemia (“atypical” PKU).
All patients identified with increased phenylalanine on newborn screening require follow-up BH4 and DHPR analysis.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Blood spots (5) Guthrie card
Blood spots (5) Guthrie card
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Specimen Container Paediatric:
Blood spots (5) Guthrie card
Blood spots (5) Guthrie card
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Minimum Volume Adult:
5 spots
5 spots
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Minimum Volume Paediatric:
5 spots
5 spots
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Special Requirement:
Store sample at 4°C
Store sample at 4°C
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Transport Requirements:
Post - contact the laboratory first.
Post - contact the laboratory first.
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Interpretation:
Interpretation will be provided as part of the report.
Interpretation will be provided as part of the report.
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: